Abstract
MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.
| Original language | English |
|---|---|
| Pages (from-to) | 742-745 |
| Number of pages | 4 |
| Journal | Diseases of the Colon and Rectum |
| Volume | 52 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 1 Apr 2009 |
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Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor : Report of a case. / De Ferro, Susana Mão; Suspiro, Alexandra; Fidalgo, Paulo; Lage, Pedro; Rodrigues, Paula; Fragoso, Sofia; Vitoriano, Inês; Baltazar, Célia; Albuquerque, Cristina; Bettencourt, António; Leitão, Carlos Nobre.
In: Diseases of the Colon and Rectum, Vol. 52, No. 4, 01.04.2009, p. 742-745.Research output: Contribution to journal › Article
TY - JOUR
T1 - Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor
T2 - Report of a case
AU - De Ferro, Susana Mão
AU - Suspiro, Alexandra
AU - Fidalgo, Paulo
AU - Lage, Pedro
AU - Rodrigues, Paula
AU - Fragoso, Sofia
AU - Vitoriano, Inês
AU - Baltazar, Célia
AU - Albuquerque, Cristina
AU - Bettencourt, António
AU - Leitão, Carlos Nobre
PY - 2009/4/1
Y1 - 2009/4/1
N2 - MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.
AB - MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.
UR - http://www.scopus.com/inward/record.url?scp=66849091419&partnerID=8YFLogxK
U2 - 10.1007/DCR.0b013e318199db93
DO - 10.1007/DCR.0b013e318199db93
M3 - Article
VL - 52
SP - 742
EP - 745
JO - Diseases of the Colon and Rectum
JF - Diseases of the Colon and Rectum
SN - 0012-3706
IS - 4
ER -